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Van Der Woude Syndrome: a Case Report and Review

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Van Der Woude Syndrome: a Case Report and Review CASE REPORT Indonesia Journal of Biomedical Science (IJBS) 2020, Volume 14, Number 2: 118-121 P-ISSN.2085-4773, E-ISSN.2302-2906 Van der woude syndrome: A case report and review Nyoman Ayu Anggayanti1*, Endang Sjamsudin2, Farah Asnely Putri2 ABSTRACT Introduction: The prevalent autosomal disorder, with or technique and simple excision were conducted combined with without cleft palate and lip, is Van der Woude Syndrome (VWS). a breakthrough procedure under general anesthesia to correct The condition has been known for its lower lip pits. Interferon bilateral cleft lips. The patient showed better clinical condition after Regulatory Factor 6 (IRF6) gene mutations are causing a range of the seventh-day post-surgery without infection sign, and bilateral cases of VWS. The furrows caused an accumulation of mucous and cleft in lower lip pit closed in a month after surgery. felt esthetic pain during meals and crying. Conclusion: VWS is generally not known and not always Purpose: To determine VWS causes, prevalence, treatment, diagnosed. It is peculiar that the cleft palate and lip phenomenon symptoms, and diagnosis. is routinely integrated into the same pedigree. The patient with Case report: A six-month-old baby was with lip pits, a bilateral a lip pit can be thoroughly examined, for example, by revealing cleft lip and palate since birth. The extraoral exam showed bilateral the secret shape of the cleft. In this case, the surgical repair was pit swellings with dome form on the lower vermilion boundary handled simultaneously to both functional and esthetic aspects to laterally to the midline. Simultaneous operations with the Nordhoff achieve satisfying results. Keywords: van der woude syndrome, cleft lip and palate, lip pits Cite this Article: Anggayanti, N.A., Sjamsudin, E., Putri, F.A. 2020.Van der woude syndrome: A case report and review. IJBS 14(2): 118-121. DOI: 10.15562/ijbs.v14i2.269 1Departement of Oral and INTRODUCTION VWS has high penetration and variable Maxillofacial Surgery, School of expressiveness from 89% to 99%. Live births from Dentistry, Faculty of Medicine, The Van der Woude Syndrome (VWS) is a sinus 1:35 thousand to 1:100 thousand and 1 to 2 percent. Universitas Udayana, Denpasar, disorder that included lower lip, a flaccid lip and Seventy percent of lip wells are associated with the Indonesia 1 palate. In 1954, Van der Woude described this palate and even lip.4 Thirty percent have minimum 2Departement of Oral and function, investigated it extensively, developed a Maxillofacial Surgery, Faculty of results like isolated lip wells and hypodontia. connection between the lower lip or sinus, and Most cases of VWS are due to IRF6 mutations. In Dentistry, Universitas Padjadjaran, introduced a new clinical perspective to the heritage Bandung, Indonesia 1 the 1q32-41 field, VWS was related to 500 to 800 mode. The lip-pit typically has salivary glands, kilobases deletion.5 These cases are unusual. The which drain into the lip-pit and result in salivary VWS case and its literature, we are interested in flow. The patient lip pits can associate with patient covering below. dizziness symptoms, velopharyngeal abnormalities 2 or genital or cardiovascular problems. They are CASE REPORT typically positioned on the lower vermilion portion on either side of the midline with symmetrical A six-month male infant with lip pits, cleft palate, and and bilateral. They may also be asymmetrical bilateral cleft lip came to the Cleft Center University *Corresponding author: on a unilateral, medial, or bilateral. One lesion is of Padjadjaran Bandung. Parents complained about Nyoman Ayu Anggayanti; 2 Departement of Oral and typically used as an incomplete syndrome. Lip pits cleft lip, palate, and drooling issues since childbirth. Maxillofacial Surgery, School of are oval shape, transverse, and even sulcious. Cross- Uncomplicated deliveries and normal births have Dentistry, Faculty of Medicine, cut mucosa and conical (nipple-like) elevations been confirmed, and there has never been a history Universitas Udayana, Denpasar, are considered lower lip microforms. The sinuses of drug and radiation exposure during pregnancy. Indonesia; penetrate to a depth of 1-25 mm in the orbicular A general physical condition test was found [email protected] muscle and interact with the small salival glands with 7 kg body weight within the normal range. beneath them. They are mostly asymptomatic, but We observed bilateral dome-shaped swellings with Received: 2020-09-21 watery or salivary secretions are intermittently or pitches on the midline on the lower vermilion Accepted: 2020-11-23 continuously drained.3 boundary with a complete cleft palate and lip had Published: 2020-12-01 been diagnosed. (Figure 1). 118 Published byOpen DiscoverSys access: http://ijbs-udayana.org | IJBS 2020; 14(2): 118-121/ and | d http://www.ojs.unud.ac.id/oi: 10.15562/ijbs.v14i2.269 CASE REPORT the diagram’s completion, lidocaine 2 percent plus epinephrine 1:200,000 is infiltrated into the lip clamp has been inserted during the procedure to decrease bleeding. The incisions and the dissections are rendered as usual by other methods according to the mark, and the repair is closed by three layers: first, the mucosa, muscles, and skin (Section 2B). The procedure must be performed simultaneously to correct the bilateral cleft lip with lower lip pits of the infant to achieve appropriate findings both in functional and esthetic terms. Figure 1. Bilateral cleft lip and lower pits lip preoperative picture Following surgery, the patient has treated with amoxicillin 100mg. After the treatment, his lip looked like mild swelling oedematous, no bleeding, no fever. Patients use a spoon for drinking milk. Patients are permitted to return, and the treatment is continued. Polyclinic monitoring is promoted in patients. After seven days of surgery, a suture has been removed, no signs of infection exist (Figure 3A), and the bilateral cleft, lower lip pit were closed, and a follow-up has been closed for a month after surgery. (Figure 3B). (A) (B) Figure 2. During operation (A). The lips with marking side, (B). Patient’s DISCUSSION condition after surgery Van der Woude was the firstperson companion to combine lower lip troughs with cleft palate and lip which introduce a newly clinical perspective, thus defining the heredity mode as a whole. Bocian et al. documented a lip pit patient in 1887 and 1q32-q41 deletion. Murray et al. followed by a link between VWS and the markers in the same area. Bocian et al. found in families with VWS in 1q32-q41 microdeletions.6 The second locus of VWS was (A) (B) located in 1p34 chromosome. The IRF6 mutation in patients with VWS has recently been identified. Figure 3. (A). The suture was extracted seven days after surgery (B). A month VWS cases are usually related to chromosome after the operation 1q32-q41 (VWS 1), and chromosome 1p34 for the second locus (VWS 2). IRF6 are coded by the gene that located in chromosome 1q32-q41. IRF Treatment for bilateral cleft lip correction and are a family of transcription factors. Nine IRFs in simple excision with general anesthesia is envisaged. humans are registered. IRF6 is still uncertain for its The infant made eligible for preoperative and role, meanwhile the other IRFs has the known role.6 perioperative care with a laboratory test, a thorax The mandibular arch and the lower lip sulcus X-ray, and cardiopulmonary in the Department of lateral fusion occurs at 5.5 weeks during normal Pediatrics and the Department of Anesthesia. Her development, while the maxillary and nasofrontal general anesthesia treatments did not include a fusions take place at a period of six weeks. A joint contraindication, and the patient’s parents signed event can, at the same time, interrupt fusion at informed consent. either location. It is potentially that lip pit and cleft The Nordhoff technique and an exact cut lip and palate are closely related.5 Parents frequently combination with a split-lip advancing approach guested these pits due to eruption of maxillary were used to correct the bilateral cleft lip under incisors, although the pits have been present since general anesthesia surgically. The patient was the beginning, months before the maxilla incisors’ aseptic and antiseptic and had a supine role under eruption. As standard, our patients’ depressions general anesthesia. Marking for this cleft lip repair were thought to have formed due to tooth pressure, is the same as the methylene blue mark (Figure and there was no any other evaluation in our 2A) and follows the same principles. Following patient. Therefore, any other lip-pit anomalies need Published by DiscoverSys | IJBS 2020; 14(2): 118-121 | doi: 10.15562/ijbs.v14i2.269 119 CASE REPORT diameter of the lower lip fistulae is more than the clinical trials initially predicted (average 15.7 mm). This depth means that the orbicularis oris muscle is similar to its aesthetic effects if not well remedied. This must be taken into account before surgery.7 Mutaf et al. explains the classic elliptical cutting and split-leap technique, includes two methods used for removal of fistula. We used elliptical simple for fistula excision and had good results (Figure 4). CONCLUSION Doctors should be aware for congenital condition of the variable lip pit, which has clinical variables of VWS, and this disorder is hard to identify.6 While lip pits show that the VWS is present as the exclusive clinical finding, the negative correlation with previously recorded chromosome 1q32-Q41 deletion and the lack of a mutation of IRF 6 in our case indicates that the phenotypic expression of the Figure 4. Drawings of operational strategies available in VWS to treat lower 2nd modifier gene may be affected. Genetic therapy is recommended for a potential pregnancy because lip pits.
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